Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.T283I

SGSH

309 papers

RefSeq Summary

This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease muco...

Pfam Domains

Sulfataseaa 23–328UCSCSulfatase
SGSH_Caa 400–474UCSCN-sulphoglucosamine sulphohydrolase, C-terminal

Gene Aliases

HGNC Name

N-sulfoglucosamine sulfohydrolase

HGNC Alias Symbols

HSS; MPS3A; SFMD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000199.5
p.T283I
c.848C>T
Surrounding Variants
2 papers
NM_000199.5
p.R282K
c.845G>A
1 paper
NM_000199.5
p.S280R
c.840C>G
1 paper
NM_000199.5
p.S280R
c.840C>A
3 papers
NM_000199.5
p.Y286S
c.857A>C
1 paper
NM_000199.5
p.Y286*
c.858C>G
1 paper
NM_000199.5
p.S280R
c.838A>C
3 papers
NM_000199.5
p.P288S
c.862C>T
1 paper
NM_000199.5
p.F278S
c.833T>C
3 papers
NM_000199.5
p.P288L
c.863C>T
1 paper
NM_000199.5
p.P277S
c.829C>T
1 paper
NM_000199.5
p.A291S
c.871G>T
2 papers
NM_000199.5
p.A291T
c.871G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."